Rare Disease Library

LAMA5-related multisystemic syndrome

Lamb-Shaffer syndrome

SOX5 haploinsufficiency syndrome

LAMB2-related infantile-onset nephrotic syndrome

Lambert syndrome

Branchial dysplasia-intellectual disability-inguinal hernia syndrome

Lambert-Eaton myasthenic syndrome

Lamellar ichthyosis

LI

Laminin subunit alpha 2-related congenital muscular dystrophy

CMD1A · Congenital muscular dystrophy due to laminin alpha2 deficiency

Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23

Laminin subunit alpha 2-related late-onset muscular dystrophy · Laminin subunit alpha 2-related LGMD R23

Laminin subunit alpha 2-related muscular dystrophy

LAMA2-related muscular dystrophy · Qualitative or quantitative defects of merosin

Laminopathy with lipodystrophy

Laminopathy with peripheral neuropathy

Laminopathy with premature aging

Laminopathy with striated muscle involvement

Lymphangioleiomyomatosis

LAM

Deafness with labyrinthine aplasia, microtia, and microdontia

Hearing loss with labyrinthine aplasia, microtia, and microdontia · LAMM syndrome

Acetazolamide-responsive myotonia

ACZ-responsive congenital myotonia · ACZ-responsive myotonia

Acquired hypothalamic obesity

Acute and subacute inflammatory demyelinating polyneuropathy

Acute and subacute inflammatory demyelinating polyradiculoneuropathy

Acute encephalopathy with inflammation-mediated status epilepticus

Acute inflammatory demyelinating polyradiculoneuropathy

AIDP · Acute idiopathic demyelinating polyneuropathy

ALPI-related inflammatory bowel disease

Anophthalmia-hypothalamo-pituitary insufficiency syndrome

14q22 microdeletion syndrome · Al Frayh-Facharzt-Haque syndrome

Autoimmune/inflammatory optic neuropathy

Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation

APLAID

Autoinflammatory syndrome

Autoinflammatory syndrome of childhood

Autoinflammatory syndrome with acne and/or hidradenitis suppurativa

Autoinflammatory syndrome with immune deficiency

Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis

Autoinflammatory syndrome with skin involvement

Autosomal dominant neovascular inflammatory vitreoretinopathy

ADNIV

Autosomal semi-dominant severe lipodystrophic laminopathy

Brain inflammatory disease

Catecholaminergic polymorphic ventricular tachycardia

Polymorphic ventricular tachycardia induced by catecholamines · CPVT

CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome

CAIN

Chronic inflammatory demyelinating polyneuropathy

CIDP · Chronic inflammatory demyelinating polyradiculoneuropathy

Chronic relapsing inflammatory optic neuritis

CRION

Congenital hypothalamic hamartoma syndrome

CHHS

Congenital myopathy with excess of thin filaments

Actin myopathy

Diffuse large B-cell lymphoma with chronic inflammation

Diffuse large B-cell lymphoma · DLBCL

Disorder of catecholamine synthesis

Disorder of cobalamin metabolism and transport

Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency

Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to suppressor of cytokine signaling 1 haploinsufficiency · SOCS1-related autoinflammatory syndrome

Early-onset autoinflammatory syndrome due to A20 haploinsufficiency

Early-onset AID due to HA20 · Early-onset autoinflammatory disorder due to HA20

Early-onset lamellar cataract

F12-associated cold autoinflammatory syndrome

FACAS

Familial hyperinflammatory lymphoproliferative immunodeficiency

NCKAP1L-associated hyperinflammatory disorder · HEM1 deficiency syndrome

Familial multiple nevi flammei

Familial multiple port-wine stains